Mutagenetix > Incidental Mutation

Incidental Mutation 'R2331:Wdr72'

245877

Institutional Source

Beutler Lab

Gene Symbol

Wdr72

Ensembl Gene

ENSMUSG00000044976

Gene Name

WD repeat domain 72

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R2331 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74017608-74190485 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74055608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 279 (Y279C)

Ref Sequence

ENSEMBL: ENSMUSP00000149349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055879] [ENSMUST00000215440]

AlphaFold

D3YYM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000055879
AA Change: Y279C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: Y279C

Domain	Start	End	E-Value	Type
WD40	4	45	1.24e0	SMART
WD40	51	93	1.54e0	SMART
WD40	143	188	8.22e1	SMART
Blast:WD40	319	363	4e-19	BLAST
WD40	398	443	8.88e0	SMART
WD40	461	506	5.97e-1	SMART
WD40	509	554	9.9e0	SMART
WD40	557	596	2.12e-3	SMART
low complexity region	694	711	N/A	INTRINSIC
low complexity region	780	798	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000215440
AA Change: Y279C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele display hypomineralized enamel, ameloblast abnormalities and decreased post-weaning body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	C	T	1: 38,243,971 (GRCm39)		probably null	Het
Cadps	A	G	14: 12,603,692 (GRCm38)	I376T	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Gm10295	A	C	7: 71,000,437 (GRCm39)	S48A	unknown	Het
Gstcd	A	G	3: 132,704,641 (GRCm39)	C538R	probably damaging	Het
Hcn3	A	T	3: 89,055,397 (GRCm39)	S617T	probably benign	Het
Hectd4	A	G	5: 121,458,089 (GRCm39)	I752V	probably benign	Het
Itgb7	G	T	15: 102,131,983 (GRCm39)	T200K	probably damaging	Het
Lcn11	C	A	2: 25,670,188 (GRCm39)	T177K	possibly damaging	Het
Lsm14a	A	G	7: 34,056,915 (GRCm39)	V241A	probably benign	Het
Magi1	T	C	6: 93,662,543 (GRCm39)	K1075E	probably damaging	Het
Or4c111	T	C	2: 88,844,265 (GRCm39)	I48V	probably benign	Het
Or4d10c	C	A	19: 12,065,522 (GRCm39)	L211F	probably benign	Het
P4hb	T	C	11: 120,459,106 (GRCm39)	N129S	probably benign	Het
Piezo1	C	T	8: 123,214,005 (GRCm39)		probably null	Het
Ppp3ca	T	C	3: 136,503,580 (GRCm39)	M51T	probably benign	Het
Sema6d	T	C	2: 124,499,983 (GRCm39)	V353A	probably damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Sh3rf2	T	C	18: 42,186,928 (GRCm39)	F16L	probably benign	Het
Sparcl1	A	G	5: 104,233,660 (GRCm39)	L563P	probably damaging	Het
Stra6l	T	C	4: 45,858,224 (GRCm39)		probably null	Het
Sult2a6	A	T	7: 13,959,795 (GRCm39)	M246K	possibly damaging	Het
Trpv5	A	G	6: 41,636,902 (GRCm39)	S399P	probably damaging	Het
Uggt2	A	T	14: 119,264,011 (GRCm39)	F1006L	possibly damaging	Het
Uhrf1	C	A	17: 56,617,671 (GRCm39)		probably null	Het

Other mutations in Wdr72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Wdr72	APN	9	74,062,411 (GRCm39)	missense	probably damaging	1.00
IGL01385:Wdr72	APN	9	74,086,788 (GRCm39)	splice site	probably benign
IGL01512:Wdr72	APN	9	74,056,041 (GRCm39)	missense	probably benign	0.02
IGL01544:Wdr72	APN	9	74,056,007 (GRCm39)	missense	probably damaging	1.00
IGL01938:Wdr72	APN	9	74,056,056 (GRCm39)	missense	probably benign	0.25
IGL02090:Wdr72	APN	9	74,062,212 (GRCm39)	missense	possibly damaging	0.87
IGL02121:Wdr72	APN	9	74,189,011 (GRCm39)	utr 3 prime	probably benign
IGL02140:Wdr72	APN	9	74,117,505 (GRCm39)	missense	probably benign	0.40
IGL02171:Wdr72	APN	9	74,117,816 (GRCm39)	missense	possibly damaging	0.94
IGL02208:Wdr72	APN	9	74,064,581 (GRCm39)	missense	probably damaging	1.00
IGL02936:Wdr72	APN	9	74,059,862 (GRCm39)	missense	probably damaging	1.00
IGL02979:Wdr72	APN	9	74,086,838 (GRCm39)	missense	probably damaging	1.00
IGL03263:Wdr72	APN	9	74,064,711 (GRCm39)	missense	probably damaging	1.00
Arresting	UTSW	9	74,086,783 (GRCm39)	splice site	probably benign
R0332_Wdr72_931	UTSW	9	74,064,534 (GRCm39)	critical splice acceptor site	probably null
R2036_Wdr72_658	UTSW	9	74,058,876 (GRCm39)	missense	probably damaging	1.00
F5770:Wdr72	UTSW	9	74,064,552 (GRCm39)	missense	probably damaging	0.96
R0107:Wdr72	UTSW	9	74,117,715 (GRCm39)	missense	probably damaging	1.00
R0332:Wdr72	UTSW	9	74,064,534 (GRCm39)	critical splice acceptor site	probably null
R0420:Wdr72	UTSW	9	74,118,039 (GRCm39)	missense	possibly damaging	0.75
R0536:Wdr72	UTSW	9	74,064,690 (GRCm39)	missense	probably damaging	1.00
R0565:Wdr72	UTSW	9	74,124,588 (GRCm39)	missense	probably benign	0.34
R0755:Wdr72	UTSW	9	74,052,376 (GRCm39)	missense	probably benign	0.05
R1183:Wdr72	UTSW	9	74,086,867 (GRCm39)	missense	probably benign	0.00
R1636:Wdr72	UTSW	9	74,086,907 (GRCm39)	missense	probably benign	0.00
R1668:Wdr72	UTSW	9	74,117,444 (GRCm39)	missense	probably damaging	0.99
R1687:Wdr72	UTSW	9	74,117,481 (GRCm39)	missense	probably benign	0.13
R1813:Wdr72	UTSW	9	74,183,298 (GRCm39)	missense	possibly damaging	0.85
R1835:Wdr72	UTSW	9	74,058,899 (GRCm39)	missense	probably damaging	1.00
R2036:Wdr72	UTSW	9	74,058,876 (GRCm39)	missense	probably damaging	1.00
R2113:Wdr72	UTSW	9	74,052,454 (GRCm39)	missense	probably benign	0.07
R2369:Wdr72	UTSW	9	74,117,457 (GRCm39)	missense	possibly damaging	0.77
R3973:Wdr72	UTSW	9	74,125,979 (GRCm39)	missense	probably benign
R4021:Wdr72	UTSW	9	74,058,875 (GRCm39)	missense	probably benign	0.18
R4596:Wdr72	UTSW	9	74,058,887 (GRCm39)	missense	probably benign	0.00
R4665:Wdr72	UTSW	9	74,117,306 (GRCm39)	missense	probably benign	0.10
R4694:Wdr72	UTSW	9	74,086,837 (GRCm39)	missense	probably damaging	1.00
R4894:Wdr72	UTSW	9	74,117,843 (GRCm39)	missense	probably benign	0.00
R5027:Wdr72	UTSW	9	74,053,258 (GRCm39)	missense	probably damaging	1.00
R5269:Wdr72	UTSW	9	74,064,653 (GRCm39)	missense	probably damaging	1.00
R5432:Wdr72	UTSW	9	74,183,228 (GRCm39)	missense	probably damaging	1.00
R5470:Wdr72	UTSW	9	74,046,981 (GRCm39)	nonsense	probably null
R5717:Wdr72	UTSW	9	74,055,487 (GRCm39)	missense	probably damaging	1.00
R5793:Wdr72	UTSW	9	74,117,625 (GRCm39)	missense	probably benign	0.02
R5963:Wdr72	UTSW	9	74,052,310 (GRCm39)	missense	probably damaging	1.00
R6108:Wdr72	UTSW	9	74,058,950 (GRCm39)	missense	probably damaging	0.97
R6111:Wdr72	UTSW	9	74,117,607 (GRCm39)	missense	probably benign	0.00
R6113:Wdr72	UTSW	9	74,059,923 (GRCm39)	missense	probably benign	0.02
R6245:Wdr72	UTSW	9	74,055,505 (GRCm39)	missense	probably damaging	1.00
R6469:Wdr72	UTSW	9	74,120,643 (GRCm39)	missense	probably benign	0.15
R6726:Wdr72	UTSW	9	74,059,822 (GRCm39)	missense	possibly damaging	0.54
R6857:Wdr72	UTSW	9	74,062,323 (GRCm39)	missense	probably damaging	1.00
R6916:Wdr72	UTSW	9	74,062,321 (GRCm39)	missense	probably benign
R6921:Wdr72	UTSW	9	74,117,928 (GRCm39)	missense	probably benign
R7092:Wdr72	UTSW	9	74,117,754 (GRCm39)	missense	probably damaging	1.00
R7104:Wdr72	UTSW	9	74,055,597 (GRCm39)	missense	probably damaging	1.00
R7560:Wdr72	UTSW	9	74,117,408 (GRCm39)	missense	probably damaging	1.00
R7684:Wdr72	UTSW	9	74,054,292 (GRCm39)	missense	probably damaging	1.00
R8025:Wdr72	UTSW	9	74,050,781 (GRCm39)	missense	probably benign	0.00
R8035:Wdr72	UTSW	9	74,086,783 (GRCm39)	splice site	probably benign
R8079:Wdr72	UTSW	9	74,126,054 (GRCm39)	missense	probably damaging	0.99
R8142:Wdr72	UTSW	9	74,046,949 (GRCm39)	missense	probably damaging	1.00
R8166:Wdr72	UTSW	9	74,120,610 (GRCm39)	missense	probably benign
R8266:Wdr72	UTSW	9	74,050,774 (GRCm39)	missense	probably damaging	1.00
R8465:Wdr72	UTSW	9	74,059,730 (GRCm39)	missense	possibly damaging	0.93
R8968:Wdr72	UTSW	9	74,059,729 (GRCm39)	missense	probably benign	0.31
R9074:Wdr72	UTSW	9	74,125,902 (GRCm39)	missense	possibly damaging	0.86
R9336:Wdr72	UTSW	9	74,117,292 (GRCm39)	missense	probably damaging	1.00
R9643:Wdr72	UTSW	9	74,118,041 (GRCm39)	missense	probably damaging	1.00
V7583:Wdr72	UTSW	9	74,064,552 (GRCm39)	missense	probably damaging	0.96
X0067:Wdr72	UTSW	9	74,059,784 (GRCm39)	missense	probably damaging	1.00
Z1177:Wdr72	UTSW	9	74,117,818 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTAGCATTATTTCCACCATCGC -3'
(R):5'- TTGCAGGCCCAGAGTAAATC -3'

Sequencing Primer
(F):5'- TGCTAATCTTGCAGGCAGAC -3'
(R):5'- GGCCCAGAGTAAATCTTCCAGTG -3'

Posted On

2014-10-30